Canonical Allele Identifier: CA521523164

Gene:

Linked Data

• dbSNP Id: rs1481002538
• gnomAD v2: 1-20200983-G-A
• gnomAD v3: 1-19874490-G-A
• gnomAD v4: 1-19874490-G-A
• MyVariant Identifiers: chr1:g.20200983G>A (hg19) ; chr1:g.19874490G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.19874490G>A , CM000663.2:g.19874490G>A	GRCh38
NC_000001.10:g.20200983G>A , CM000663.1:g.20200983G>A	GRCh37
NC_000001.9:g.20073570G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_947027.1:n.266-8738C>T
XR_947028.1:n.266-8738C>T
XR_947027.2:n.167-8738C>T
XR_947028.2:n.167-8738C>T